{"orpha":276435,"name":"Lower motor neuron syndrome with late-adult onset","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LOSMoN","Late-onset spinal motor neuronopathy","SMAJ","Spinal muscular atrophy, Jokela type"],"definition":"A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276435/","orphanet_url":"https://www.orpha.net/en/disease/detail/276435","names":{"fr":{"name":"Syndrome du motoneurone inférieur, forme tardive de l'adulte","synonyms":["Amyotrophie spinale proximale type Jokela","LOSMoN","Neuronopathie motrice spinale de début tardif","SMAJ"],"definition":"Maladie génétique rare du motoneurone caractérisée par une faiblesse musculaire, principalement proximale, et une atrophie à progression lente qui se manifestent généralement par des crampes musculaires, des fasciculations, une diminution ou une absence des réflexes tendineux, un tremblement des mains et un taux sérique élevé de créatine kinase au stade précoce de la maladie. À un stade plus tardif, un trouble de la marche et du sens vibratoire est observé."},"de":{"name":"Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter","synonyms":["LOSMoN","SMAJ","Spinale Muskelatrophie Typ Jokela"],"definition":"Eine genetisch bedingte Motoneuronenerkrankung, die durch eine langsam fortschreitende, vorwiegend proximale Muskelschwäche und -atrophie gekennzeichnet ist, die sich typischerweise durch Muskelkrämpfe, Faszikulationen, verminderte/abwesende tiefe Sehnenreflexe, Handtremor und erhöhte Serumkreatinkinase zu Beginn der Erkrankung äußert und später mit einer verminderten Gehfähigkeit und beeinträchtigtem Vibrationsempfinden einhergeht."},"es":{"name":"Síndrome de motoneurona inferior de inicio tardío en el adulto","synonyms":["AME Jokela","Atrofia muscular espinal, tipo Jokela","Neuronopatía motora espinal de inicio tardío"],"definition":"Es una enfermedad de la motoneurona de origen genético poco frecuente caracterizada por debilidad y atrofia muscular lentamente progresiva y predominantemente proximal que se manifiesta tipicamente con calambres musculares, fasciculaciones, reflejos osteotendinosos disminuidos/ausentes, temblor de manos, e incremento de la creatinquinasa sérica al inicio de la enfermedad, asociando posteriormente trastornos de la marcha y alteración de la sensibilidad vibratoria."},"it":{"name":"Sindrome dei motoneuroni inferiori ad esordio tardivo nell'età adulta","definition":"Si tratta di una malattia genetica rara dei motoneuroni, caratterizzata da debolezza e atrofia muscolare, per lo più prossimale, a progressione lenta. In genere la malattia esordisce con crampi muscolari, fascicolazioni, riduzione/assenza dei riflessi tendinei profondi, tremore delle mani e livelli elevati di creatin-chinasi nel siero; successivamente i pazienti presentano anomalie della deambulazione e una compromissione del senso della vibrazione."},"nl":{"name":"Lager motorneuron-syndroom met aanvang in de late volwassenheid","synonyms":["LOSMoN","SMAJ","Spinale motorische neuronopathie met late aanvang","Spinale musculaire atrofie, Jokela-type"],"definition":"Een zeldzame, genetische motorneuronziekte, die gekarakteriseerd wordt door traag progressieve zwakte en atrofie van voornamelijk proximale spieren, en die zich bij aanvang doorgaans manifesteert met spierkrampen, fasciculaties, verminderde/afwezige diepe peesreflexen, tremor van handen, en verhoogde creatinekinasegehaltes in serum, aar later ook verminderd loopvermogen en verstoorde vibratiezin associeert."},"pt":{"name":"Síndrome do neurónio motor inferior com início tardio no adulto"},"pl":{"name":"Zespół dolnego motoneuronu osób dorosłych objawiający się w późnym wieku","synonyms":["LOSMoN","Late-onset spinal motor neuronopathy","SMAJ","Spinal muscular atrophy, Jokela type"]},"cs":{"name":"Syndrom dolního motoneuronu s nástupem v pozdní dospělosti","synonyms":["LOSMoN","Late-onset spinal motor neuronopathy","SMAJ","Spinal muscular atrophy, Jokela type"]},"uk":{"name":"Синдром нижнього моторного нейрона з пізнім початком у дорослому віці","synonyms":["Пізня спінальна моторна нейронопатія","LOSMoN","SMAJ","Спинальна мязова атрофія, тип Джокела"],"definition":"A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation."},"zh":{"name":"晚发性下运动神经元综合征","synonyms":["Jokela型脊髓性肌萎缩症"],"definition":"成人晚期起病的下运动神经元综合征是一种罕见的遗传性运动神经元病，其主要特征是缓慢进行性近端肌无力和肌萎缩，常表现为肌肉痉挛、肌束震颤、深反射减少或消失、手部震颤和发病时血清肌酸激酶升高，随后出现行走能力下降和振动感觉受损。"},"tr":{"name":"Geç erişkin başlangıçlı alt motor nöron sendromu","synonyms":["SMAJ","Spinal kas atrofisi, Jokela tipi"]}},"xrefs":[{"source":"OMIM","code":"615048","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1650555742"},{"source":"MONDO","code":"0014025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211037,"name":"Autosomal dominant proximal spinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CHCHD10","name":"coiled-coil-helix-coiled-coil-helix domain containing 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25428574[PMID]","hgnc":"15559","ensembl":"ENSG00000250479","omim":"615903","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"25428574[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25428574[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-25","source":"28456383[PMID]_28434507[PMID]_26131548[PMID]_25428574[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003449","label":"Cold-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031921","label":"Gastrocnemius myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008985","label":"Increased intramuscular fat","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040132","label":"Abnormal sensory nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Excluded (0%)","criteria":null}]}}